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Next-generation sequencing

Nonsense variant:

A single base pair alteration which result in a premature stop codon.

Nonsynonymous variant (ns):

A single base pair alteration which results in an altered amino acid.

Novel variant:

A DNA alteration which has not been previously reported in a public database.


The building blocks of RNA and DNA polymers which consist of a nitrogenous base (adenine (A), guanine (G), thymine (T), or cytosine (C) in DNA; adenine (A), guanine (G), uracil (U), or cytosine (C) in RNA), a phosphate molecule, and a sugar molecule (deoxyribose in DNA; ribose in RNA)

Null allele:

An allele which results in a lack of the gene’s normal function.